Page last updated: 2024-08-26

pregnanetriol and Smith-Lemli-Opitz Syndrome

pregnanetriol has been researched along with Smith-Lemli-Opitz Syndrome in 5 studies

Research

Studies (5)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	4 (80.00)	29.6817
2010's	1 (20.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Shackleton, CH	1
Guo, LW; Pang, J; Shackleton, CH; Wilson, WK	1
Ciara, E; Czerwiecka, M; Goryluk-Kozakiewicz, B; Jezela-Stanek, A; Jezuita, J; Krajewska-Walasek, M; Małunowicz, EM; Nowaczyk, MJ; Popowska, E; Spodar, K	1
Craig, WY; Haddow, JE; Kelley, RI; Kratz, LE; Marcos, J; Palomaki, GE; Shackleton, CH	1
Kelley, R; Kratz, L; Roitman, E; Shackleton, CH	1

Reviews

1 review(s) available for pregnanetriol and Smith-Lemli-Opitz Syndrome

Article	Year
Role of a disordered steroid metabolome in the elucidation of sterol and steroid biosynthesis. Lipids, 2012, Volume: 47, Issue:1 Topics: 11-beta-Hydroxysteroid Dehydrogenases; 46, XX Disorders of Sex Development; Adrenal Glands; Adrenogenital Syndrome; Animals; Hirsutism; Humans; Lipogenesis; Metabolome; Mice; Mutation; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pregnanetriol; Smith-Lemli-Opitz Syndrome; Steroid Metabolism, Inborn Errors; Sterols	2012

Article

Year

Role of a disordered steroid metabolome in the elucidation of sterol and steroid biosynthesis.

Lipids, 2012, Volume: 47, Issue:1

Topics: 11-beta-Hydroxysteroid Dehydrogenases; 46, XX Disorders of Sex Development; Adrenal Glands; Adrenogenital Syndrome; Animals; Hirsutism; Humans; Lipogenesis; Metabolome; Mice; Mutation; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pregnanetriol; Smith-Lemli-Opitz Syndrome; Steroid Metabolism, Inborn Errors; Sterols

2012

Trials

1 trial(s) available for pregnanetriol and Smith-Lemli-Opitz Syndrome

Article	Year
Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS). American journal of medical genetics. Part A, 2007, Sep-15, Volume: 143A, Issue:18 Topics: Estriol; Female; Gas Chromatography-Mass Spectrometry; Humans; Male; Pregnancy; Pregnanetriol; Smith-Lemli-Opitz Syndrome	2007

Other Studies

3 other study(ies) available for pregnanetriol and Smith-Lemli-Opitz Syndrome

Article	Year
Chemical synthesis of 7- and 8-dehydro derivatives of pregnane-3,17alpha,20-triols, potential steroid metabolites in Smith-Lemli-Opitz syndrome. Steroids, 2003, Volume: 68, Issue:1 Topics: Magnetic Resonance Spectroscopy; Models, Molecular; Molecular Conformation; Oxidation-Reduction; Pregnanetriol; Reference Standards; Smith-Lemli-Opitz Syndrome; Stereoisomerism	2003
Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies. Clinical genetics, 2006, Volume: 69, Issue:1 Topics: Adult; Amniotic Fluid; Chorionic Villi Sampling; Dehydrocholesterols; Estriol; Family; Female; Gas Chromatography-Mass Spectrometry; Genotype; Humans; Oxidoreductases Acting on CH-CH Group Donors; Phenotype; Pregnancy; Pregnanetriol; Prenatal Diagnosis; Smith-Lemli-Opitz Syndrome	2006
Dehydro-oestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome. Prenatal diagnosis, 2001, Volume: 21, Issue:3 Topics: Biomarkers; Estriol; Female; Gas Chromatography-Mass Spectrometry; Humans; Predictive Value of Tests; Pregnancy; Pregnanetriol; Prenatal Diagnosis; Smith-Lemli-Opitz Syndrome	2001